Mutation Details for c.1405A>G
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cDNA Name
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c.1405A>G
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Protein Name
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p.Met469Val
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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M469V
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Other Details
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Contributors
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Girodon et al.
2003-05-30
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Institute
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Service de Biochimie-Genetique Hopital Henri-Mondor,France
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Submitted Phenotype Details
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The mutation was found in a 38y M with CBAVD, diagnosed at 37y, PS, M469V in cis with M470V (1540A/G), also carrying deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Girodon et al. 2003
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